Abstract
KEY CLINICAL MESSAGE: This case report aims to raise a physiotherapy intervention for subjects with SMS. The basis is an active work, based on postural control and balance training. Physiotherapists can play an important role in the management of these subjects. ABSTRACT: Smith-Magenis syndrome (SMS) is a genetic alteration that encompasses a series of psychophysical repercussions that interferes with postural control and the autonomous functionality of the subjects who suffer from it. In this study, a clinical case of an 18-year-old adolescent with a genetic diagnosis of an SMS mutation is presented. This work proposes a physiotherapy intervention, adapted to the individual conditions and agreed upon with his family. The goal would be to analyze the effectiveness of postural control and balance training in a subject with SMS. A physiotherapy intervention based on postural control and balance was proposed. This approach is combined with the strengthening and readaptation of the antigravity muscles, through strength training, mobilization exercises, gait and transfers reeducation. An initial assessment was carried out. The interventions were developed at the home of the clinical case. The main variables were balance and postural control. For this, the following measurement scales and tests were used: Face Scale, Gross Motor Function Scale, Berg Balance Scale, Romberg Test, Barthel Index, and Functional Assessment of Sitting (SATco scale). After the intervention, the case presented under observation greater postural control in the transfers, less imbalances, and introduced new positions during their development, which allow more functional and autonomous movement. This was also extrapolated to gait, which was optimized in its development. This observation was not reflexed in test scores, which remained the same than the initial assessment. The intervention had a positive effect on the development of trunk control, transfers, and gait.